| syndroom van hyperinsulinisme en hyperammoniëmie (aandoening) | | syndroom van hyperinsulinisme en hyperammoniëmie | | HIHA-syndroom
| | Hyperinsulinism and hyperammonemia syndrome | | Glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome
GLUD1 related hyperinsulinism and hyperammonemia syndrome
| | A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment. |
| | Id | 718106009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E16.1 | | Term | Overige gespecificeerde vormen van hypoglykemie |
| Target | E72.2 | | Term | Stofwisselingsstoornissen van ureumcyclus |
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| SNOMED CT to Orphanet simple map | 35878 |
| SNOMED CT to ICD-10 extended map | | Target | E72.8 | | Rule | TRUE | | Advice | ALWAYS E72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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